Could Fragile X Be Key to Autism Puzzle?

Author: National Fragile X Foundation
Published: 2013/04/09 - Updated: 2024/08/04
Publication Details: Peer-Reviewed, Research, Study, Analysis
Category Topic: Autism Information - Academic Publications

Page Content: Synopsis - Introduction - Main

Synopsis: Findings suggest a possible novel therapeutic target for the treatment of fragile X syndrome, the most common inherited form of autism and intellectual disability. While most people know about autism and ASD, not as many are aware of fragile X syndrome. Fragile X syndrome is closely related to autism, is the most common inherited cause of intellectual disabilities, and is the most common genetic cause of autism.

Defining Fragile X Syndrome

Fragile X Syndrome: Fragile X Syndrome is defined as a genetically inherited form of mental retardation. The syndrome occurs when there is a change or mutation in a single gene, referred to as the 'Fragile X Mental Retardation 1 (FMR1) Gene.' The gene usually produces a protein a person's body requires for their body to develop; however, when there is a change in this gene, the person's body has only a tiny amount of the protein or none of it. This can cause symptoms of Fragile X. Fragile X may be passed from a parent to a child. Parents may have children with the syndrome, even if the parents themselves do not have the syndrome.

Introduction

Fragile X Syndrome is a genetic condition that causes various developmental problems, including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.

Main Content

Updates:

There continues to be exciting news of research advancements on the Fragile X gene and its links to autism. New research studies are discovering more pathways linking Fragile X and autism. In addition, bipartisan support is growing in Congress to continue building on the success of the federally funded Fragile X research.

Parents who have children enrolled in promising clinical drug trials around the country are raising awareness through social and traditional media as well as directly to their elected representatives.

Later this spring, Congressman Greg Harper (R-MS) and the National Fragile X Foundation will host a Congressional Round-table to explore how best to realize the full potential of these research breakthroughs linking Fragile X and autism. The White House also sees this potential, as the proposed $100 million brain mapping project will only accelerate the pace at which Fragile X and autism will be conquered. Members of the House of Representatives are also expected to introduce legislation later this month to reallocate up to $200 million from public funding of presidential elections and party conventions to NIH research.

New Research Findings:

MIT researchers reverse symptoms of Fragile X Syndrome:

Neuroscientists at MIT's Picower Institute for Learning and Memory report in the March 18 Proceedings of the National Academy of Sciences (PNAS) that they have reversed autism and Fragile X symptoms in adult mice with a single dose of an experimental drug.

The work from the laboratory of Nobel laureate Susumu Tonegawa, the Picower Professor in the Department of Biology and a principal investigator at the Picower Institute, points to yet additional potential targets for drugs that may one day improve Fragile X and autism symptoms such as hyperactivity, repetitive behaviors, and seizures by modifying molecular mechanisms underlying the disease.

"These findings suggest a possible novel therapeutic target for the treatment of fragile X syndrome (FXS) - the most common inherited form of autism and intellectual disability," said Eric Klann, a professor of neural science at New York University.

Parents Speak Out and People are Listening:

After nearly 200 parents of individuals living with Fragile X convened in Washington DC on March 5-6 to advocate for continued funding and more efficient use of the federal government's dollars in research, the word is now spreading throughout the nation. Letters to the Editors have been published in Michigan, Illinois, Connecticut, Massachusetts, Louisiana, Colorado, Mississippi, Arizona, North Carolina, Utah, and Kansas as families continue to spread the word about the closely related conditions of Fragile X and autism. Here's one example from the Dearborn Press & Guide (MI)

To the Editor:

In the past year, ground-breaking research has uncovered specific genetic links between autism and Fragile X syndrome, giving families like ours hope that treatment for many of the core symptoms of both conditions is on the horizon. New drugs currently in clinical trials have been shown to significantly reduce the symptoms of severe social impairment in people with autism or fragile X syndrome. Many families in Michigan are participating in these exciting trials. Reducing repetitive behaviors and improving social skills would allow our family members to lead more independent lives.

While most people know about autism and autism spectrum disorders, not as many are aware of fragile X syndrome. Fragile X syndrome is closely related to autism, is the most common inherited cause of intellectual disabilities, and is the most common genetic cause of autism.

It is imperative that the advancements made through these ground-breaking research projects continue to be built upon. We have just returned from Washington, D.C., where we met with members of Congress to raise awareness of Fragile X, this breakthrough research, and its potential. Wise stewardship of federal research dollars would encourage continued investment and expand the scope of research into the links between Fragile X and autism.

The promise of this research gives hope to many of us in Michigan who have family members with autism and fragile X syndrome that independence and social acceptance are within reach in our lifetime.

- Vicky Maracle

Government Study Finds Significant Increase in Parental Reporting of Autism Spectrum Disorders:

Behaviorally, intellectually, and neurologically the spectrum presentation of Fragile X and disorders on the autism spectrum overlap and intersect, and research continues to expose the secrets of these closely related conditions. The Centers for Disease Control (CDC) recently found that incidences of autism spectrum disorders in school-age children (ages 6-17) to now be at 2 percent, or 1 in 50, up from 1 in 86 (or 1.16 percent) in 2007 for the same age group.

Although there is concern about the number of individuals and families impacted, Fragile X and autism researchers are giving everyone hope for a brighter future.

Related Information

Attribution/Source(s): This peer reviewed publication was selected for publishing by the editors of Disabled World (DW) due to its relevance to the disability community. Originally authored by National Fragile X Foundation and published on 2013/04/09, this content may have been edited for style, clarity, or brevity.